High palate, and Delayed myelination

Diseases related with High palate and Delayed myelination

In the following list you will find some of the most common rare diseases related to High palate and Delayed myelination that can help you solving undiagnosed cases.

Top matches:

Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by Piard et al., 2018).For a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Flexion contracture
  • High palate
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about HYPEREKPLEXIA 4; HKPX4

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

NEDMIAL is a neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. Additional common features may include sleep disorder, nonspecific dysmorphic facial features, and joint hyperlaxity (summary by Lessel et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL

Other less relevant matches:

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52

Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.

HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1 Is also known as hepatoencephalopathy, early fatal progressive|hepatoencephalopathy due to coxpd1

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1

Pontocerebellar hypoplasia type 10 is a rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.

PONTOCEREBELLAR HYPOPLASIA TYPE 10 Is also known as pch10|clp1-related pontocerebellar hypoplasia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 10

NMIHBA is a severe, autosomal recessive, neurodevelopmental, and neurodegenerative disorder characterized by global developmental delay apparent from infancy and profound intellectual disability. Affected individuals have microcephaly with accompanying dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows variable abnormalities, including cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination (summary by Zollo et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).

GABRIELE-DE VRIES SYNDROME Is also known as yy1 haploinsufficiency syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GABRIELE-DE VRIES SYNDROME

Top 5 symptoms//phenotypes associated to High palate and Delayed myelination

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with High palate and Delayed myelination. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Feeding difficulties

Uncommon Symptoms - Between 30% and 50% cases

Absent speech

Common Symptoms - More than 50% cases

Hypoplasia of the corpus callosum

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Strabismus Depressed nasal bridge Low-set ears Hyperreflexia Epicanthus Encephalopathy Spasticity Nystagmus Ventriculomegaly Cerebral atrophy Anteverted nares Short nose Open mouth Hypertonia Hypertelorism Delayed speech and language development Dystonia Abnormality of the cerebral white matter High forehead Visual impairment Growth delay Cryptorchidism Anxiety

Rare Symptoms - Less than 30% cases

Ataxia Cerebellar atrophy Hearing impairment Broad forehead Inability to walk Facial asymmetry Synophrys Apnea Postnatal microcephaly Ptosis Esotropia Respiratory insufficiency Hypothyroidism Upslanted palpebral fissure Scoliosis Protruding ear Metabolic acidosis Cerebral visual impairment Muscular hypotonia of the trunk Adducted thumb Thin upper lip vermilion Intrauterine growth retardation Proptosis Cerebral cortical atrophy Optic atrophy Myoclonus Cataract Downslanted palpebral fissures Hypsarrhythmia Poor eye contact Tremor Long philtrum Acidosis Lactic acidosis Progressive microcephaly Flexion contracture Underdeveloped nasal alae Narrow chest Macrotia Wide nasal bridge Cerebellar hypoplasia Talipes Sloping forehead Peripheral neuropathy Delayed gross motor development Irritability Abnormality of brainstem morphology Cortical gyral simplification Narrow forehead Sensorimotor neuropathy Long eyelashes Progressive spasticity Long palpebral fissure Delayed fine motor development Highly arched eyebrow Abnormality of the cerebral cortex Visual fixation instability Skeletal muscle atrophy Talipes equinovarus Brain atrophy Poor head control Blindness Clumsiness Tetraparesis Craniosynostosis Cognitive impairment Abnormality of the skeletal system Abnormality of the dentition Behavioral abnormality Malar flattening Posteriorly rotated ears Joint laxity Abnormality of the pinna Gliosis Ganglioneuroblastoma Waddling gait Thick lower lip vermilion Pointed chin Sparse eyebrow Long fingers Esophageal atresia Periorbital fullness Lacrimal duct stenosis Micrognathia Pontocerebellar atrophy Clonus Hypoglycemia Narrow palate Spastic tetraparesis Plagiocephaly Multiple joint contractures Hypoventilation Central hypotonia Central hypoventilation Hydrocephalus Attention deficit hyperactivity disorder Inverted nipples Generalized tonic-clonic seizures Apraxia Fulminant hepatic failure Bradycardia Paraparesis Hyperbilirubinemia Laryngomalacia Impulsivity Basal ganglia cysts Constipation Increased CSF lactate Tapered finger Tented upper lip vermilion Gait ataxia Pes planus Aggressive behavior Joint hypermobility Everted lower lip vermilion Chorea Aciduria Involuntary movements Delayed ability to walk Bruxism Low frustration tolerance Edema Prominent forehead Neonatal hypotonia Infantile muscular hypotonia Bulbous nose Dolichocephaly Camptodactyly Respiratory distress Hernia Inguinal hernia Respiratory failure Kyphoscoliosis Umbilical hernia Rigidity Arthrogryposis multiplex congenita Hepatic failure Brisk reflexes Distal arthrogryposis Exaggerated startle response Muscular hypotonia Frontal bossing Microphthalmia Sparse hair Telecanthus Unsteady gait Progressive encephalopathy Cardiomyopathy Downturned corners of mouth Self-injurious behavior Chronic constipation Lumbar scoliosis Asymmetry of the ears Motor delay Hepatomegaly Vomiting Pectus carinatum Small hand Increased serum lactate Bradykinesia Cholestasis Decreased liver function Global brain atrophy Hypokinesia Prominent nasal bridge Short philtrum Epileptic encephalopathy Myopathic facies Broad-based gait Cafe-au-lait spot CNS hypomyelination Deep philtrum Precocious puberty Bilateral ptosis Overlapping toe Neurodevelopmental delay Autistic behavior Facial hypotonia Sensorineural hearing impairment Macrocephaly Hyperactivity Autism Deeply set eye Developmental regression Mild intrauterine growth retardation


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